研究者総覧 - 井上　真紀

イノウエ　マサノリ
井上　真紀

所属大分大学医学部・委託事業おおいた地域医療支援システム構築事業講座

職種准教授

論文
論文	Unilateral cerebral injury mimicking hemiconvulsion-hemiplegia-epilepsy syndrome in a boy with newly diagnosed infantile-onset ornithine transcarbamylase deficiency: A case report and literature review Brain and Development Case Reports 4 (3),100149-100149頁 2026/09
論文	Serum hyaluronic acid as an early indicator of disease severity in transient abnormal myelopoiesis associated with Down syndrome Journal of Perinatology 2026/08/18
論文	Feasibility of chest radiograph–based bone mineral density estimation in pediatric patients using an adult AI model International Congress of Endocrinology 2026 2026/06
論文	Impact of Postnatal Changes in Creatinine Levels on Plasma Gentamicin Concentrations in Neonates. Pharmaceutical research 2026/03/16
論文	Common dominant-negative spectrum of SLC45A2 mutations in OCA4 defined by endoplasmic reticulum retention. Biochemical and biophysical research communications 811,153578-153578頁 2026/03/06
論文	当院における新生児代謝救急症例の後方視的検討大分県医学会雑誌 35,78-84頁 2026/03
論文	Examination of brain morphology and perinatal background factors associated with characteristics of early infantile spontaneous movements Brain and Development 47 (5) 2025/10
論文	A boy diagnosed with infantile-onset ornithine transcarbamylase deficiency presented with an acute onset hemiconvulsion-hemiplegia-epilepsy syndrome 15th International Congress of Inborn Errors of Metabolism 2025/09
論文	Integrative Clinical and Zebrafish Model Analysis of RARS2-Related Neonatal Mitochondrial Disease 15th International Congress of Inborn Errors of Metabolism 2025/09
論文	Learning needs and experiences of hospital nurses in genetic medicine in a rural area of Japan: A cross-sectional questionnaire survey in Oita prefecture Preventive Medicine Reports,103239-103239頁 2025/09
論文	Liver pathology in Lars1-Knockin zebrafish and mouse models of infantile liver failure syndrome type 1 15th International Congress of Inborn Errors of Metabolism 2025/09
論文	Umbilical cord serum metabolomics identifies amino acid alterations associated with impaired linear growth in small for gestational age infants. Scientific reports 15 (1),27378-27378頁 2025/07/28
論文	A gain-of-function PIK3CD variant, R512W, impairs T cell function through polyamine-dependent metabolic dysregulation Biochemical and Biophysical Research Communications 778,152378-152378頁 2025/07
論文	Epileptic seizures and EEG findings in 3p deletion syndrome involving SLC6A1. European journal of medical genetics 76,105027-105027頁 2025/06/13
論文	Metabolomic characteristics of cord blood from neonates with hyperkalemia after antenatal exposure to ritodrine and magnesium sulfate. Scientific reports 15 (1),2186-2186頁 2025/01/16
論文	Detection of Gastroesophageal Reflux Associated With Apnea in a Preterm Infant Using Multichannel Intraluminal Impedance-pH Monitoring: A Case Report Cureus January 15, 2025 (1),e77504 2025/01/15
論文	大分大学医学部附属病院の遺伝子診療室における遺伝カウンセリングの取り組みと課題大分県医学会雑誌 32,50-59頁 2024/09
論文	A pathogenic variant Gly148Arg of ACTA2 gene causes left ventricular myocardial compaction: cardiac manifestations in a zebrafish model. European Societyof Human Genetics Conference(ESHG 2024) 2024/06
論文	Behavioral and neurotransmitter changes on antiepileptic drugs treatment in the zebrafish pentylenetetrazol-induced seizure model FENS forum 2024 2024/06
論文	Biallelic variants in LARS1 induce steatosis in developing zebrafish liver via enhanced autophagy. Orphanet journal of rare diseases 19 (1),219-219頁 2024/05/28
論文	Cardiac manifestations of human ACTA2 variants recapitulated in a zebrafish model. Journal of human genetics 69 (3-4),133-138頁 2024/04
論文	Clinical characteristics of preterm and term infants with Ureaplasma in gastric fluid. Pediatrics and neonatology 65 (2),170-176頁 2024/03
論文	Behavioral and neurotransmitter changes on antiepileptic drugs treatment in the zebrafish pentylenetetrazol-induced seizure model. Behavioural brain research,114920-114920頁 2024/02/23
論文	A pH imbalance is linked to autophagic dysregulation of inner ear hair cells in Atp6v1ba-deficient zebrafish. Biochemical and biophysical research communications 699,149551-149551頁 2024/01/19
論文	出生前診断されたタナトフォリック骨異形成症の1例と日本国内報告例の包括的検討日本周産期・新生児医学会雑誌 59 (3),397-402頁 2023/12
論文	Detection and identification of neonates hospitalized in NICU in gastric fluids by multiplex PCR The 18th Congress of the Asian Society for Pediatric Research 2023/11
論文	Autophagy enhancement induces steatosis in the developing liver of lars-knock-in zebrafish Human Generics Asia 2023 2023/10
論文	脊髄髄膜瘤の新生児期頭部・脊髄MRI所見と神経機能予後の関連大分県医学会雑誌 30,6-11頁 2023/09
論文	Neuropathological hallmarks in autopsied cases with mitochondrial diseases caused by the mitochondrial 3243A>G mutation. Brain pathology (Zurich, Switzerland),e13199 2023/08/03
論文	SDQを用いた５歳児精密健診の効果についての検討大分県医師会雑誌 2023年 (3月号) 2023/03
論文	Elucidation of the mechanism of hearing loss associated with distal tubular acidosis Asian Conference on Fish Models for Diseases 2023/02
論文	An Algorithm for the Detection of General Movements of Preterm Infants Based on the Instantaneous Heart Rate. Children (Basel, Switzerland) 10 (1) 2022/12/29
論文	Acute myeloid leukemia associated with CHARGE syndrome. American journal of medical genetics. Part A 191 (3),878-881頁 2022/12/21
論文	The autophagy reaction in the human umbilical cord: a potential marker for estimating fetal nutrition and neonatal growth. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 35 (4),625-629頁 2022/02
論文	Feto-maternal hemorrhage with placental chorioangioma: Two case reports. Pediatrics international : official journal of the Japan Pediatric Society 64 (1),e15196 2022/01
論文	Metabolome Characteristics of Liver Autophagy Deficiency under Starvation Conditions in Infancy Nutrients 13 (9),3026-3026頁 2021/08/29
論文	Leucyl-tRNA synthetase deficiency systemically induces excessive autophagy in zebrafish. Scientific reports 11 (1),8392-8392頁 2021/04/16
論文	Immune escape by loss of heterozygosis of HLA genes facilitated the transmission of diffuse large B cell lymphoma from mother to offspring. British journal of haematology 189 (6),e234-e237 2020/06
論文	Tyrosine pre-transfer RNA fragments are linked to p53-dependent neuronal cell death via PKM2. Biochemical and biophysical research communications 525 (3),726-732頁 2020/03/03
論文	CLP1 acts as the main RNA kinase in mice. Biochemical and biophysical research communications 2020/02/17
論文	Central hypoadrenocorticism associated with Rathke's cleft cyst NEUROENDOCRINOLOGY LETTERS 38 (3),141-144頁 2017/07
論文	Aminophylline-associated irritable behaviour in preterm neonates EARLY HUMAN DEVELOPMENT 99,37-41頁 2016/08